Variant report

Variant	rs2292087
Chromosome Location	chr11:19180693-19180694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:19165811..19169038-chr11:19178567..19181274,4	K562	blood:
2	chr11:19173396..19176209-chr11:19178466..19181065,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12292273	1.00[ASW][hapmap]
rs2271000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2278148	0.86[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19140000-19186400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:19140800-19186800	Weak transcription	Colonic Mucosa	Colon
3	chr11:19143400-19185800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:19143400-19186400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:19143400-19201600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:19143600-19197400	Weak transcription	Small Intestine	intestine
7	chr11:19153200-19186600	Weak transcription	Aorta	Aorta
8	chr11:19156600-19193200	Weak transcription	Fetal Stomach	stomach
9	chr11:19156800-19193800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:19156800-19194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:19157200-19186200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:19161600-19194400	Weak transcription	HSMM	muscle
13	chr11:19162800-19203000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:19164000-19200400	Weak transcription	Fetal Brain Male	brain
15	chr11:19166200-19186200	Weak transcription	Brain Anterior Caudate	brain
16	chr11:19166400-19203000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:19166800-19186400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:19167000-19194200	Weak transcription	Fetal Kidney	kidney
19	chr11:19167400-19184800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:19167400-19186600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:19167400-19194200	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:19167600-19184200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr11:19167800-19181600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:19167800-19181800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:19167800-19199400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:19168000-19201600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:19168400-19181400	Strong transcription	Dnd41	blood
28	chr11:19168400-19182200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:19168400-19184400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:19168800-19185200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:19169000-19186800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:19169000-19189000	Weak transcription	Fetal Intestine Small	intestine
33	chr11:19169000-19194600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:19169200-19181600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:19169200-19185200	Weak transcription	K562	blood
36	chr11:19169400-19197800	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:19169400-19200400	Weak transcription	Brain Angular Gyrus	brain
38	chr11:19169600-19186200	Weak transcription	HepG2	liver
39	chr11:19170000-19186200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:19170000-19200200	Strong transcription	Primary B cells from cord blood	blood
41	chr11:19170400-19183600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:19171000-19190200	Weak transcription	NH-A	brain
43	chr11:19171400-19180800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:19171600-19188000	Weak transcription	HMEC	breast
45	chr11:19171600-19192400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:19172000-19185600	Weak transcription	Fetal Thymus	thymus
47	chr11:19172000-19186800	Weak transcription	Hela-S3	cervix
48	chr11:19172200-19208600	Weak transcription	Brain Substantia Nigra	brain
49	chr11:19172600-19186800	Weak transcription	NHDF-Ad	bronchial
50	chr11:19172800-19194200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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